{"id":"W2034607546","doi":"10.1167/iovs.06-0472","title":"Genotype-Phenotype Correlations in Axenfeld-Rieger Malformation and Glaucoma Patients with<i>FOXC1</i>and<i>PITX2</i>Mutations","year":2006,"lang":"en","type":"article","venue":"Investigative Ophthalmology & Visual Science","topic":"Glaucoma and retinal disorders","field":"Medicine","cited_by":170,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Alberta","funders":"University of Alberta","keywords":"PITX2; Glaucoma; Dysgenesis; Medicine; Proband; Intraocular pressure; Ophthalmology; Mutation; Biology; Genetics; Gene; Anatomy","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003439632,0.0003826038,0.0003969653,0.0009479225,0.0004092525,0.0003696474,0.0001926339,0.0006516022,0.003571658],"category_scores_gemma":[0.002546793,0.0002418152,0.0002542924,0.0005540644,0.000380503,0.0003270924,0.0002973044,0.0003243728,0.0003641501],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001800725,"about_ca_system_score_gemma":0.0001694715,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009689291,"about_ca_topic_score_gemma":0.001097952,"domain_scores_codex":[0.9996375,0.00008522021,0.0000500281,0.00009541353,0.00006653218,0.00006535382],"domain_scores_gemma":[0.9985325,0.0005464349,0.0005518899,0.000050344,0.0000676759,0.000251138],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002523132,0.00003851621,0.9962213,0.000007379457,0.0000266854,0.001085302,0.00009880943,0.00004117478,0.001062405,0.00002326961,0.00005926059,0.001083614],"study_design_scores_gemma":[0.00001957421,0.0002349711,0.9944817,0.000005780913,0.00002171918,0.004676694,0.0001218557,0.000150612,0.0001517873,0.00003476433,0.00009424015,0.000006268286],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9996536,0.00008037843,0.00003407145,0.00001428487,0.000002080099,0.000003589171,0.0000511677,0.000002014575,0.0001589348],"genre_scores_gemma":[0.9997212,0.00003021475,0.00006763573,0.00001400235,0.000005845622,0.000005888869,0.00009864572,0.000001496053,0.0000550519],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003571658,"threshold_uncertainty_score":0.01194841,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0111926547876976,"score_gpt":0.2721686412043668,"score_spread":0.2609759864166692,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}